Absence of mutations in <it>NR2E1 </it>and <it>SNX3 </it>in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

<p>Abstract</p> <p>Background</p> <p>A disruption of sorting nexin 3 (<it>SNX3</it>) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no <it>SNX3 </it>mu...

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Bibliographic Details
Main Authors: Simpson Elizabeth M, Schwartz Charles E, Slavotinek Anne, Morgan Chad T, Everman David B, Kumar Ravinesh A
Format: Article
Language:English
Published: BMC 2007-07-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/8/48